Father fights alongside daughter against deadly disease

Sunday

Dec 16, 2012 at 3:15 AM

By Michelle Kingstonmkingston@fosters.com

PORTSMOUTH — How do you tell your daughter that she is dying?

This is the question that Al Merrill is facing, and has been facing, since his 16-year-old daughter, Chelsea, was diagnosed with a rare, degenerative disease — a severe and deadly form of epilepsy — giving her, at best, another ten years of life.

“I have to remain optimistic and hope and pray on my hands and knees every day, but I also have to prepare for what may be the inevitable and watch her decline,” Al said.

The journey toward Chelsea’s diagnosis of Lafora Disease began with a single twitch in her eye.

“I didn’t really think anything about it,” Al said. “But a short time later, it was, ‘Dad, I have a twitch in my leg. I have a twitch in my arm.’ So I took her to our primary care physician.”

The doctor did not prescribe any medication and told Al that Chelsea was experiencing a form of tics.

“He said it was normal and not to worry about,” Al said. “Shortly after that, she said, ‘Dad, I’m seeing stars. Fireworks.’ I said, ‘OK, now this is a little strange.’

Al and his wife, Melissa, brought Chelsea to undergo a sleep study where it was discovered that her whole brain was misfiring constantly. She was given Deprico, but was not given a diagnosis.

After a few weeks, the tics got worse. Chelsea began losing her balance and falling over. A trip to a neurologist brought Chelsea to several new medications that normally work well for epileptic patients, like Keppra, and she was given an official diagnosis of Juvenile Myoclonus Epilepsy (JME).

“For Chelsea, (the medications) did not work. She was good for a week or a week and a half then she stopped responding and started going backward again,” Al said.

On July 26, 2012, Chelsea had her first tonic-clonic seizure. She was given another drug, Ativan, to calm the symptoms.

Al is thankful for one doctor who sat down with him and explained JME and who suggested to slowly wean Chelsea off certain medications and try new drugs — explaining that each patient is different and needs to find the right balance with the twelve epileptic medicines that exist.

But Al said Chelsea was really beginning to feel like a science project.

“In September, about half way through the change in medications, Chelsea had her second seizure,” Al said. “It lasted over three minutes.”

Chelsea stopped breathing during her third seizure.

”Now I’m really frustrated, I needed to know what was wrong with my daughter. I just kept pushing,” Al said.

During a visit at Maine Medical Center in October, Al had read about one of five Progressive Myoclonus Epilepsy diseases, one of them being Lafora disease. This onsets between the ages of 9 and 12 and from that stage, patients are given a life expectancy of five to 10 years. There are only about 200 recorded cases worldwide. There is no cure.

“I said, ‘Please, Lord, don’t let it be this,’” Al said.

On Oct. 19, Chelsea had three seizures in six hours. She was on seven medications. After a few hours, her symptoms passed and she was sent home.

After about a month, Al became hopeful as Chelsea had not experienced any seizures and had only occasional twitching.

“But Wednesday afternoon, the day before Thanksgiving, at 4:10 on the nose, she had four generalized seizures in 15 minutes,” Al said, adding that she had three additional seizures in a local emergency room before being transported to Maine Medical Center.

Al said the doctors were dumbfounded.

“They said, ‘This is the worst I have ever seen. I have never dealt with anything like this,’” he said.

Chelsea and her family were sent to Boston Children’s Hospital. After 950 different genetic tests were run, doctors were still looking for answers.

“They did a skin biopsy to reveal a quicker answer and, it did,” Al said. “They found the lafora bodies that they were looking for. Ultimately, I felt like I picked my own poison when I was at Maine Medical and had said, ‘No, not Lafora disease,’ but sure enough, they made that diagnosis.”

“It is just so sad,” Kristy Bates, a family friend said. “One day she is a teenager, worried about boys and texting, and the biggest thing you worry about is a biology test, and now it is like, not knowing if you will ever go home.”

Chelsea has been at Crotched Mountain Specialty Hospital in Greenfield since Dec. 10. They specialize in brain injury rehabilitation and provide both acute and nonacute rehabilitative care for children and adults.

She has been approved for a wish by the Make-A-Wish Foundation and has asked to meet the cast of Twilight.

“She just loves to have fun like any typical teenage girl,” Al said, adding she has a few good friends back home at Portsmouth High School, enjoys basketball and softball, horseback riding and has always been known to pick up others when they are down. “She likes her Jersey Shore and Rihanna. I can’t say enough, though, about how much she loved to help other people and animals. If there was an animal hurt she would say, ‘Dad, oh, we have to stop and help this little guy.’”

Al said he thought she would make a great veterinarian and had an interest in helping service dogs.

“She’s warm. She’s giving. I just can’t stop gloating about her. She is my little girl,” he said. “Trying to accept the thought of burying her before I go on is devastating. I didn’t have to have her, she has been a blessing to me.”

Al said the day she had those seven seizures was the day that took his daughter.

“A month before that, she could walk and talk, speak and carry on a conversation,” he said. “She feels the frustration now. She knows something is going wrong. I haven’t figured out how to explain it to her yet.”

He said he has been able to speak with councilors at Crotched Mountain, as he has been staying with Chelsea there. He has left her side less than a handful of times since she has been in and out of hospitals. He has stopped working and has spent each day with Chelsea, sleeping in a cot right beside her, waking up and ending the day next to his daughter.

“How can you tell your little girl she is going to die? That there is no cure for this? That Daddy can’t fix this? I don’t have the heart to tell her something like that,” he said, adding that a reverend came to speak to them and Chelsea never asked about herself, just asked to make sure her “Daddy” would be prayed for.

“If she were awake right now, and she actually smiled at you, you’d know Chelsea through her smile,” he said. “I’m stuck between a rock and a hard place. We have to give her every chance at hope, because that is all I have is hope.”

Al has asked that families research, donate and spread the word about this rare disease.

“I need her story to be told, not for me, I don’t want the money,” he said. “It is for my little girl, who is so important to me.”

Linda Gerber started a Lafora Children Research Fund, after her daughter, also named Chelsea, who lives on the west coast, was diagnosed. Al said Gerber’s daughter is 22 years old and is nearing the end of her fight.

“She lies on a mat. She doesn’t eat, she doesn’t drink. Once in a while she will wiggle and smile. It is heartbreaking,” he said. “I’m going to make some noise about this. My world has turned upside down and I have to get this out there. Get me on the Today Show. They are going to hear about me in Washington and they are going to feel me in California. That is my goal.’

Al said bills were beginning to pile up at home, but that his focus right now was on Chelsea, and still “playing the role” of husband to his wife, dad to his other two children, and grandfather to nine-month-old Carter.

“I hope that people take a minute, if they have kids, to grab them and not let go. Tell them how much you love them. If you have a parent, grab them,” he said. “That is what it is all about when it boils down to it … It’s not about money, or being sick, or needing treatment. It is about love.”

A Facebook page has been created to update the community on Chelsea, at facebook.com/CureChelsea. A donation button has been added to www.ahigherenergy.com to donate to the family. To donate to Lafora disease through Gerber’s foundation, visit www.chelseashope.org.

“I don’t care what I have to do, I just have to save my daughter,” Al said. “If it’s the Lord’s will, she will be healed. If it is the Lord’s will to take her home, I will understand that. But it doesn’t mean that my fight stops there.”

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